Fetal Ovarian Cyst-A Scoping Review of the Data from the Last 10 Years.

Abdominal cystic masses are diagnosed during the intrauterine period and have a relatively low incidence. Fetal ovarian cysts are the most common form diagnosed prenatally or immediately after birth. The pathophysiology of the development of these types of tumors is not fully elucidated, with ovarian hyperstimulation caused by maternal and placental hormones being the most accepted hypothesis. During intrauterine development, the diagnosis of fetal ovarian cysts is most often made accidentally during usual check-up ultrasounds corresponding to the first, second, and third trimesters of pregnancy. We conducted a scoping review with the aim to map the current knowledge regarding the treatment of fetal ovarian cysts diagnosed in the intrauterine period. Focusing on the articles published in the last 10 years in the specialized literature, we tried to identify a conceptualization regarding the surveillance and treatment of these anomalies.

Association of Parental Factors and Insulin-like Growth Factor 2 Polymorphism with Intrauterine Growth Restriction.

Polymorphism of insulin-like growth factor 2 (IGF2) is known to play a role in cell development. Only the paternal IGF2 copy is active, while the copy inherited from the mother is inactive. This study aimed to explore whether maternal and paternal factors influence IGF2 polymorphism in newborns with intrauterine growth restriction (IUGR) compared to appropriate for gestational age (AGA). A cross-sectional exploratory study was conducted from June 2014 to November 2015 at the Neonatology, Gynecology 1 Clinic, Cluj-Napoca, Romania. The ApaI IGF2 genotypes and allele frequencies were similar in the IUGR and AGA groups (p-value > 0.10). The IUGR babies with a protective IGF2 genetic profile had significantly younger parents (a difference in the median age of 8 years for mothers and 9 years for fathers; p-value < 0.009). The IUGR babies had parents with lower birth weights than AGA babies (mothers' medians: 2800 g vs. 3100 g; fathers' medians: 3000 g vs. 3400 g; p-value < 0.02). In univariable regression analysis, the mother's and father's birth weight proved to be associated with IUGR. The father's birth weight proved to be the only factor significantly associated with IUGR, independent of the mother's birth weight or the presence of a protective IGF2 genetic profile (odd ratio = 0.998 [0.996 to 1.000], p-value = 0.032).

Maternal and neonatal outcomes associated with delivery techniques for impacted fetal head at cesarean section: a systematic review and meta-analysis.

OBJECTIVES: Late first-stage or second-stage cesarean section is commonly associated with fetal head impaction, leading to maternal and neonatal complications. This situation requires safe delivery techniques, but the optimal management remains controversial. The aim of this meta-analysis was to compare maternal and neonatal outcomes associated with delivery techniques via cesarean section. METHODS: An electronic search of three databases, from inception to June 2021, was conducted. Cohort and randomised comparative studies on maternal and neonatal outcomes associated with techniques to deliver an impacted fetal head during cesarean section were included. The methodological quality of the primary studies was assessed. Review Manager 5.4 was used for statistical analyses. RESULTS: Nineteen articles, including 2,345 women were analyzed. Three fetal extraction techniques were identified. Meta-analyses showed that the "pull" technique carries lower risks as compared to the "push" technique and the "Patwardhan" technique is safer compared to the "push" or the "push and pull" technique. CONCLUSIONS: In the absence of robust evidence to support the use of a specific technique, the choice of the obstetrician should be based on best available evidence. Our study suggests that the "pull", as well as the "Patwardhan" technique represent safe options to deliver an impacted fetal head.

Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.

Differences in sex development (DSD) are often correlated with a genetic etiology. This study aimed to assess the etiology of DSD patients following a protocol of genetic testing. MATERIALS AND METHODS: This study prospectively investigated a total of 267 patients with DSD who presented to Clinical Emergency Hospital for Children Cluj-Napoca between January 2012 and December 2019. Each patient was clinically, biochemically, and morphologically evaluated. As a first intervention, the genetic test included karyotype + SRY testing. A high value of 17-hydroxyprogesterone was found in 39 patients, in whom strip assay analysis of the CYP21A2 gene was subsequently performed. A total of 35 patients were evaluated by chromosomal microarray technique, and 22 patients were evaluated by the NGS of a gene panel. RESULTS: The karyotype analysis established the diagnosis in 15% of the patients, most of whom presented with sex chromosome abnormalities. Genetic testing of CYP21A2 established a confirmation of the diagnosis in 44% of patients tested. SNP array analysis was particularly useful in patients with syndromic DSD; 20% of patients tested presented with pathogenic CNVs or uniparental disomy. Gene panel sequencing established the diagnosis in 11 of the 22 tested patients (50%), and the androgen receptor gene was most often involved in these patients. The genes that presented as pathogenic or likely pathogenic variants or variants of uncertain significance were RSPO1, FGFR1, WT1, CHD7, AR, NIPBL, AMHR2, AR, EMX2, CYP17A1, NR0B1, GNRHR, GATA4, and ATM genes. CONCLUSION: An evaluation following a genetic testing protocol that included karyotype and SRY gene testing, CYP21A2 analysis, chromosomal analysis by microarray, and high-throughput sequencing were useful in establishing the diagnosis, with a spectrum of diagnostic yield depending on the technique (between 15 and 50%). Additionally, new genetic variants not previously described in DSD were observed.

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.

Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most common agent is Escherichia coli, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with Group B Streptococcus (GBS) meningitis/sepsis. She received treatment with antibiotics, supportive therapy, and erythrocyte transfusion, but after a short period of improvement, she presented acute liver failure with suspicion of an inborn error of metabolism. Rapid nuclear magnetic resonance (NMR) spectroscopy from urine showed highly elevated values of galactose and galactitol. Under intensive treatment for acute liver failure and with a lactose-free diet, her clinical features and laboratory parameters improved considerably. Genetic testing confirmed compound heterozygous status for GALT mutations: c.563 A>G [p.Q188R] and c. 910 C>T, the last mutation being a novel mutation in GALT gene. In countries without an extensive newborn screening program, a high index of suspicion is necessary for early diagnosis and treatment of galactosemia.

Cardiac left heart morphology and function in newborns with intrauterine growth restriction: relevance for long-term assessment.

AIM: To asses the cardiac morphology and functional changes specific for newborns from intrauterine growth restriction (IUGR) pregnancies. MATERIAL AND METHOD: A cohort of IUGR infants were evaluated by serial echocardiographies at delivery and at the first and six months follow-ups. IUGR newborn delivery status was compared to that of newborns in the control group according to gestational age (AGA). RESULTS: Left heart measurements were significantly lower in IUGR newborns compared to AGA babies. Left ventricular size increased at follow-up inthe IUGR group (p<0.05). Systolic dysfunction (the myocardial performance index (MPI)> 0.47) was identified in 40% of the neonates in the IUGR group (16/40), respectively 4.76% in the control group. IUGR neonates had a significantly increased proportion of systolic malfunction (p=0.004). CONCLUSION:  IUGR patients had reduced left ventricle dimensions compared to AGA babies. The MPI stands out as a marker of leftheart function in newborns. Systolic dysfunction was a hallmark of the cardiac adaptation in IUGR neonates.

Serum levels and ApaI polymorphism of insulin-like growth factor 2 on intrauterine growth restriction infants.

PURPOSE: The aim of our study was to evaluate the IGF2 and IGF2R plasmatic level and IGF2-ApaI polymorphism on infants with intrauterine growth restriction (IUGR). MATERIALS AND METHODS: A transversal study was conducted at the Neonatology Ward of the Gynecology Clinic I, Emergency Hospital Cluj-Napoca on neonates with IUGR who were discharged during June 2014 and June 2015. The serum levels of IGF2 and IGF2R were obtained by using ELISA method and IGF2-ApaI polymorphism by taking PCR-RFLP analysis. RESULTS: Forty infants with IUGR and 21 infants of appropriate gestational age (AGA) were evaluated. The serum levels of IGF2 proved higher on the A/G genotype when the IUGR group was compared with AGA (p value = .048). The G allele proved significantly more frequent in both the IUGR and the AGA group compared with the A allele (p < .002). Neither any allele nor any genotype proved a risk factor for IUGR (p value > .3). The A/G genotype proved significantly more frequent on term infants compared with preterm infants (p value = .039). CONCLUSIONS: The infant with IUGR has a higher serum level of IGF2 if has A/G IGF2-ApaI genotype and higher values of IGF2R if it has the A/A genotype.

Correlations Among Parental and Neonatal Anthropometric Parameters, Feeding Practices and Infant Obesity.

BACKGROUND AND AIMS: Infant and adult obesity is becoming a real public health concern in Romania, similar to other countries of the European Union. Maternal obesity and excessive weight gain during pregnancy are proven risk factors for the obesity of the child. The protective role of the breastfeeding against obesity has also been demonstrated. The most important issue is whether the choice of a milk formula with the right protein composition could or not protect the newborn from becoming a future obese infant and child. Our study aims to describe the characteristics of a group of macrosomic newborns, in relation to the mothers' weight gain during pregnancy, mode of delivery, birth weight, complications at birth, time of first feeding and type of feeding during maternity stay. PATIENTS AND METHODS: We conducted a retrospective study on 179 newborns with birth weights >4000 grams, born over a period of three months (March-May) in 6 large maternity hospitals in Romania. RESULTS: the newborns had a mean gestational age of 39.5 weeks and a mean birth weight of 4195 grams. Male newborns were prevalent (74%). More than half were born by Cesarian section and had Apgar scores with a median of 9. Macrosomes are prone to complications at birth and in our study those were mainly hypoglycemia and birth trauma. Time at first feeding was 95 minutes (mean), with a high percentage of formula/mixed feeding (68%). CONCLUSION: Macrosomia itself attracts the risk of birth by cesarean section (54% of study group), birth trauma and a low rate of exclusive breast milk feeding (32% of study group) at discharge.

First isolation and genetic characterization of a Toxoplasma gondii strain from a symptomatic human case of congenital toxoplasmosis in Romania.

Very limited data exists on the genetic diversity of Toxoplasma gondii from Eastern Europe. We present the first Romanian case of symptomatic congenital toxoplasmosis in which the T. gondii strain was isolated after inoculation in mice of a cerebrospinal fluid sample from a living neonate. The T. gondii strain was genotyped with 15 microsatellite markers distributed on 10 of the 14 chromosomes of T. gondii. The strain had a type II genotype.

Applications of Doppler ultrasound during labor.

The information provided by Doppler ultrasound examination during labor permits the understanding of the mechanisms regarding the physiology and pathophysiology of feto-placental exchange and the fetal adaptive systems. There are certain technical difficulties related to intrapartum Doppler ultrasound examination. The investigated sites are the uterine arteries, umbilical arteries, fetal circulation. In diastole, when intrauterine pressure exceeds maternal diastolic pressure, the perfusion pressure of the uterine artery blood flow is no longer present. A progressive decrease in the diastolic component is seen along with an increase in intrauterine pressure from 10 to 60 mmHg. During premature birth or preeclampsia, there are particular changes in the uterine blood flow. A remarkable stability of the umbilical resistance index is found during labor, which shows the permanent presence of feto-placental exchange. Certain correlations can be established between fetal heart rate changes in labor and Doppler ultrasound aspects at the level of umbilical arteries. Doppler examination confirms the concept of reduced cerebral blood flow by the compression of the fetal skull as a cause of decelerations occurring during labor. The decision regarding the extraction of the fetus can only be made by correlating the results of Doppler ultrasound with the other paraclinical methods for the monitoring of the intrapartum fetal status.

Interhemispheric lipoma associated with agenesis of corpus callosum in an infant: case report.

Agenesis of the corpus callosum is an anomaly that may occur as isolated or in association with other central nervous system or systemic malformations. We report the case of an infant antenatal diagnosed with ventriculomegaly referred in the postnatal period to our department for imaging evaluation. Ultrasonography showed the absence of the corpus callosum and an interhemispheric lesion highly suggestive for a cerebral lipoma. The diagnosis was confirmed through MRI.

C-reactive protein, marker for evaluation of systemic inflammatory response in preeclampsia.

AIM: Determination by a high sensitivity technique of serum C-reactive protein (CRP), a sensitive marker of inflammation in women with preeclampsia compared to normal pregnancy and investigation of the relationship between CRP and the severity of the preeclamptic syndrome. MATERIAL AND METHOD: The study included 40 women with preeclampsia and 40 control subjects with normal pregnancies in the last trimester of pregnancy. The serum CRP concentration was determined using the universal high sensitivity immunoturbidimetric assay. RESULTS: The serum CRP concentration was significantly higher (p < 0.001) in preclampsia (5.69 +/- 1.8 mg/L) compared to normal pregnancy (2.89 +/- 1.2 mg/L). In women with preeclampsia, CRP correlated positively and significantly with diastolic blood pressure, proteinuria and uric acid levels. Maternal CRP values also correlated negatively and significantly with fetal weight at birth. CONCLUSIONS: Our results demonstrate that serum CRP is increased in preeclampsia and represents a marker of the severity of the preeclamptic syndrome and of fetal weight at birth. Taking into consideration these observations and the fact that CRP testing is rapid and relatively inexpensive, we recommend the use of this acute phase reagent in clinical practice, in all women with preeclampsia in order to establish the prognosis of the disease.